GLI3 Gene Greig Cephalopolysyndactyly Syndrome NGS Genetic DNA Test
Comprehensive Genetic Analysis for Limb Development Disorders
The GLI3 Gene Greig Cephalopolysyndactyly Syndrome NGS Genetic DNA Test represents a cutting-edge diagnostic approach for identifying genetic mutations associated with Greig cephalopolysyndactyly syndrome (GCPS). This rare autosomal dominant condition affects approximately 1 in 1,000,000 individuals and is characterized by distinctive craniofacial features and limb abnormalities. Our advanced next-generation sequencing technology provides unparalleled accuracy in detecting GLI3 gene mutations, enabling precise diagnosis and informed medical management.
What Does This Test Measure and Detect?
This comprehensive genetic test specifically targets the GLI3 gene located on chromosome 7p14.1, which plays a crucial role in embryonic development and limb formation. The test identifies:
- Pathogenic variants in the GLI3 gene associated with Greig cephalopolysyndactyly syndrome
- Deletions, duplications, and point mutations affecting gene function
- Specific mutation types including frameshift, nonsense, and missense variants
- Genetic changes that disrupt normal hedgehog signaling pathway function
Who Should Consider This Genetic Test?
This test is recommended for individuals presenting with characteristic symptoms or family history including:
- Newborns and children with preaxial or postaxial polydactyly (extra fingers or toes)
- Individuals with syndactyly (fused digits) affecting hands or feet
- Patients displaying craniofacial abnormalities including macrocephaly, frontal bossing, or hypertelorism
- Those with family history of Greig cephalopolysyndactyly syndrome
- Couples planning pregnancy with known GLI3 gene mutations in family history
- Individuals with unexplained developmental delays and limb abnormalities
Key Benefits of GLI3 Genetic Testing
Choosing our comprehensive GLI3 genetic analysis provides numerous advantages:
- Accurate Diagnosis: Confirms or rules out Greig cephalopolysyndactyly syndrome with high precision
- Family Planning Guidance: Helps assess recurrence risks for future pregnancies
- Early Intervention: Enables timely medical management and surgical planning
- Genetic Counseling: Provides basis for informed reproductive decisions
- Differential Diagnosis: Distinguishes GCPS from similar conditions like Pallister-Hall syndrome
- Research Contribution: Advances understanding of rare genetic disorders
Understanding Your Test Results
Our comprehensive genetic report provides clear interpretation of your results:
- Positive Result: Indicates presence of pathogenic GLI3 mutation confirming GCPS diagnosis
- Negative Result: Suggests absence of detectable GLI3 mutations, though clinical correlation is essential
- Variant of Uncertain Significance: Identifies genetic changes requiring further clinical evaluation
- Carrier Status: Determines inheritance pattern and family risk assessment
All results are accompanied by detailed genetic counseling to ensure complete understanding and appropriate next steps.
Test Pricing and Availability
| Test Component | Price (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
Nationwide Testing Availability
We proudly serve patients across the United States with convenient testing locations in all major cities including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, and many more. Our network of certified genetic counselors and medical professionals ensures accessible, high-quality care regardless of your location.
Take the Next Step Toward Genetic Clarity
Don’t let uncertainty about genetic conditions affect your family’s future. Our comprehensive GLI3 genetic testing provides the answers you need for informed medical decisions and peace of mind. With results available in just 3-4 weeks and multiple sample collection options including blood, extracted DNA, or simple blood spot cards, getting tested has never been more convenient.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic counseling session and book your test. Our experienced team is ready to guide you through every step of the process and answer all your questions about GLI3 genetic testing and Greig cephalopolysyndactyly syndrome.
